A decade of experience emphasizes that testing for Y microdeletions is essential in American men with azoospermia and severe oligozoospermia

Stahl, Peter J.; Masson, Puneet; Mielnik, Anna; Marean, Michael B.; Schlegel, Peter N.; Paduch, Darius A.

doi:10.1016/j.fertnstert.2009.09.006

Cited by 147 publications

(88 citation statements)

References 20 publications

(34 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…This value lies below the lower limit of the range of sperm recovery rates reported in AZFc-deleted patients (14.3-80.0%). 1,31,[33][34][35][36][37] This is most likely related to technical issues such as low amount of testicular sample retrieved (single biopsy from each testis) and the procedure used (classical TESE); indeed, laboratories that performed microTESE reported higher sperm recovery (Supplementary Table 5). The high proportion of pure SCOS cases among our AZFc carriers represents another possible explanation for such a low retrieval rate.…”

Section: -124mentioning

confidence: 99%

Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory

et al. 2013

View full text Add to dashboard Cite

AZF microdeletion screening is routinely performed in the diagnostic work-up for male infertility; however, some issues remain debated. In this study, we provide insights into the sperm concentration cutoff value for routine testing, the predictive value of AZFc deletion for testicular sperm retrieval and the Y-background contribution to the interpopulation variability of deletion frequencies. In the Spanish population, partial AZFc rearrangements have been poorly explored and no data exist on partial duplications. In our study, 27/806 (3.3%) patients carried complete AZF deletions. All were azoo/cryptozoospermic, except for one whose sperm concentration was 2 Â 10 6 /ml. In AZFc-deleted men, we observed a lower sperm recovery rate upon conventional TESE (9.1%) compared with the literature (60-80% with microTESE). Haplogroup E was the most represented among non-Spanish and hgr P among Spanish AZF deletion carriers. The analysis of AZFc partial rearrangements included 330 idiopathic infertile patients and 385 controls of Spanish origin. Gr/gr deletion, but not AZFc partial duplications, was significantly associated with spermatogenic impairment. Our data integrated with the literature suggest that: (1) routine AZF microdeletion testing could eventually include only men with r2 Â 10 6 /ml; (2) classical TESE is associated with low sperm recovery rate in azoospermic AZFc-deleted men, and therefore microTESE should be preferred; (3) Y background could partially explain the differences in deletion frequencies among populations. Finally, our data on gr/gr deletion further support the inclusion of this genetic test in the work-up of infertile men, whereas partial AZFc duplications do not represent a risk for spermatogenic failure in the Spanish population.

show abstract

Section: -124mentioning

confidence: 99%

Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory

et al. 2013

View full text Add to dashboard Cite

show abstract

“…7 Three regions on the q-arm of the Y chromosome have been referred to as 'azoospermia factors' (AZFa, AZFb and AZFc proximal to distal respectively), which have been defined as spermatogenesis loci. 8 In addition, the regions involved in the deletion can offer valuable prognostic information (reviewed by Krausz et al [9][10][11] ).…”

Section: Known Genetic Factors Associated With Male Factor Infertilitymentioning

confidence: 99%

Meiotic recombination and male infertility: from basic science to clinical reality?

Hann¹,

Lau²,

Tempest³

2011

Asian J Androl

View full text Add to dashboard Cite

Infertility is a common problem that affects approximately 15% of the population. Although many advances have been made in the treatment of infertility, the molecular and genetic causes of male infertility remain largely elusive. This review will present a summary of our current knowledge on the genetic origin of male infertility and the key events of male meiosis. It focuses on chromosome synapsis and meiotic recombination and the problems that arise when errors in these processes occur, specifically meiotic arrest and chromosome aneuploidy, the leading cause of pregnancy loss in humans. In addition, meiosis-specific candidate genes will be discussed, including a discussion on why we have been largely unsuccessful at identifying disease-causing mutations in infertile men. Finally clinical applications of sperm aneuploidy screening will be touched upon along with future prospective clinical tests to better characterize male infertility in a move towards personalized medicine.

show abstract

“…In addition, it is important to note that infertile men carrying Yq microdeletions always pass on the defect to their male offsprings born after Intracytoplasmic Sperm Injections (ICSI) thereby perpetuating infertility in the next generationa [7]. Thus, Yq microdeletion testing is highly recommended for all the infertile men who opt for ICSI for biological parenthood [31]. Therefore, testing for Yq microdeletion is just not clinically relevant in terms of establishing the diagnosis but is also required for appropriate genetic counseling and clinical management of the infertile cases.…”

Section: Introductionmentioning

confidence: 99%

Y chromosome microdeletions in infertile men: prevalence, phenotypes and screening markers for the Indian population

Sen

Pasi

Dada

et al. 2013

J Assist Reprod Genet

View full text Add to dashboard Cite

Purpose Yq microdeletions are the leading genetic cause of male infertility and its detection is clinically relevant for appropriate genetic counseling. We aimed to determine the prevalence and type of Yq microdeletions, the associated seminal phenotypes and the STS markers that are relevant for its testing in Indian population. Methods Yq microdeletion analysis was carried out in 1,636 infertile cases in our centers. Additional data was collected from published studies in Indian population leading to a total of 3,647 cases. Results In our cohort, 3.4 % (56/1,636) of infertile men had Yq microdeletions. Combining the data from other published studies identified 215/3,647 (5.8 %) infertile individuals to harbor Yq microdeletions; with 6.4 % in azoopsermia, 5.8 % in oligozoospermia and 3.2 % in oligoasthenozoospermia and teratozoospermia cases. No significant differences in the deletion frequencies were observed between idiopathic vs non idiopathic cases (5.8 vs 8.6 % respectively). Deletions of AZFc were at highest frequency (46.6 %) with double deletions most commonly observed in azoospermic subjects. With respect to the STS markers, screening with the six European Academy of Andrology (EAA) markers would miss 3

show abstract

A decade of experience emphasizes that testing for Y microdeletions is essential in American men with azoospermia and severe oligozoospermia

Cited by 147 publications

References 20 publications

Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory

Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory

Meiotic recombination and male infertility: from basic science to clinical reality?

Y chromosome microdeletions in infertile men: prevalence, phenotypes and screening markers for the Indian population

Contact Info

Product

Resources

About